WDR73

The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants.

Full Name

WD repeat domain 73

Function

May play a role in the regulation of microtubule organization and dynamics (PubMed:25466283).

Biological Process

Biological Process cytoplasmic microtubule organization Source:UniProtKB1 Publication
Biological Process negative regulation of apoptotic process Source:UniProtKB1 Publication
Biological Process nucleus organization Source:UniProtKB1 Publication

Cellular Location

Cytoplasm, cytosol
Cytoplasm, cytoskeleton, spindle
Cytoplasm, cytoskeleton, spindle pole
Cleavage furrow
During interphase, located in the cytosol. During mitosis, accumulates at the spindle poles and microtubule asters and later in the cleavage furrow.

Involvement in disease

Galloway-Mowat syndrome 1 (GAMOS1):
A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Patients may die in early childhood. GAMOS1 inheritance is autosomal recessive.